A rare pediatric case of McCune-Albright syndrome with acute visual disturbance: Case report.
Bone Cysts, Aneurysmal
/ complications
Child
Chromogranins
Fibrous Dysplasia of Bone
/ complications
Fibrous Dysplasia, Polyostotic
/ complications
GTP-Binding Protein alpha Subunits, Gs
Genetic Testing
Humans
Magnetic Resonance Imaging
Male
Optic Nerve Diseases
/ complications
Vision Disorders
/ etiology
Journal
Medicine
ISSN: 1536-5964
Titre abrégé: Medicine (Baltimore)
Pays: United States
ID NLM: 2985248R
Informations de publication
Date de publication:
11 Feb 2022
11 Feb 2022
Historique:
received:
04
01
2022
accepted:
25
01
2022
entrez:
11
2
2022
pubmed:
12
2
2022
medline:
24
2
2022
Statut:
ppublish
Résumé
McCune-Albright syndrome (MAS) is a rare disorder characterized by clinical findings, which includes fibrous dysplasia (FD). FD is a benign tumor that leads to increased rates of bone fracture. In some MAS cases with FD, facial deformities, severe pain, and orbital neuropathies are complicated. Aneurysmal bone cyst (ABC) is a benign bone tumor and rare complication of FD. A 9-year-old boy was admitted to our hospital because of acute visual disturbance. The patient was clinically diagnosed as ABC complicated with MAS, and he underwent surgery. After the surgery, his sight became normal. Recurrence of ABC and visual disturbance was not observed in 3 years. Genetic analysis of a tissue sample from the ABC lesion by next-generation sequencing revealed a somatic activating GNAS mutation. To the best of our knowledge, this is the first case report of MAS causing optic neuropathy complicated with ABC. ABC complicated with MAS is extremely rare, but it should be considered as a possible diagnosis in patients with acute visual loss and facial swelling. In addition, our case had OAS, which is an uncommon syndrome and a rare complication in ABC with MAS, and rapid decompression of the ABC was effective in improving the patient's eyesight.
Identifiants
pubmed: 35147121
doi: 10.1097/MD.0000000000028815
pii: 00005792-202202110-00038
pmc: PMC8830878
doi:
Substances chimiques
Chromogranins
0
GNAS protein, human
EC 3.6.1.-
GTP-Binding Protein alpha Subunits, Gs
EC 3.6.5.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e28815Subventions
Organisme : Japan Agency for Medical Research and Development
ID : 19lk0201089h0001
Informations de copyright
Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.
Déclaration de conflit d'intérêts
The authors do not have any conflict of interest to disclose.
Références
Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis 2008;3:12.
Wang Y, Wang O, Jiang Y, et al. Efficacy and safety of bisphosphonate therapy in mccune-albright syndrome-related polyostotic fibrous dysplasia: a single-center experience. Endocr Pract 2019;25:23–30.
Mascard E, Gomez-Brouchet A, Lambot K. Bone cysts: unicameral and aneurysmal bone cyst. Orthop Traumatol Surg Res 2015;101:S119–127.
Tournis S, Balanika A, Megaloikonomos PD, et al. Secondary aneurysmal bone cyst in McCune-Albright syndrome. Clin Cases Miner Bone Metab 2017;14:332–5.
Urgun K, Yilmaz B, Toktaş ZO, et al. Craniospinal polyostotic fibrous dysplasia, aneurysmal bone cysts, and Chiari type 1 malformation coexistence in a patient with McCune-Albright syndrome. Pediatr Neurosurg 2016;51:253–6.
Collins MT, Singer FR, Eugster E. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis 2012;7:S4.
Amit M, Collins MT, FitzGibbon EJ, et al. Surgery versus watchful waiting in patients with craniofacial fibrous dysplasia: a meta-analysis. PLoS One 2011;6:e25179.
Weinstein LS, Shenker A, Gejman PV, et al. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991;325:1688–95.
Oliveira AM, Hsi BL, Weremowicz S, et al. USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst. Cancer Res 2004;64:1920–3.
Oliveira AM, Perez-Atayde AR, Inwards CY, et al. USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cysts. Am J Pathol 2004;165:1773–80.
Idowu BD, Al-Adnani M, O’Donnell P, et al. A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone. Histopathology 2007;50:691–704.
Lee JS, FitzGibbon E, Butman JA, et al. Normal vision despite narrowing of the optic canal in fibrous dysplasia. N Engl J Med 2002;347:1670–6.
Couturier A, Aumaître O, Gilain L, et al. Craniofacial fibrous dysplasia: a 10-case series. Eur Ann Otorhinolaryngol Head Neck Dis 2017;134:229–35.
Katz BJ, Nerad JA. Ophthalmic manifestations of fibrous dysplasia: a disease of children and adults. Ophthalmology 1998;105:2207–15.
Park HY, Yang SK, Sheppard WL, et al. Current management of aneurysmal bone cysts. Curr Rev Musculoskelet Med 2016;9:435–44.
Menon J, Brosnahan DM, Jellinek DA. Aneurysmal bone cyst of the orbit: a case report and review of literature. Eye (Lond) 1999;13:764–8.
Kjœr I. A case of orbital apex syndrome in collateral pansinusitis. Acta Ophthalmol 1945;23:357–66.